proline has been researched along with Abnormalities, Multiple in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (30.00) | 18.2507 |
| 2000's | 4 (40.00) | 29.6817 |
| 2010's | 3 (30.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| de Koning, TJ | 1 |
| Mulliken, JB; Padwa, BL; Ridgway, EB; Rogers, GF; Sullivan, SR; Vasudavan, S; Wu, JK | 1 |
| Baumer, A; Baumgartner, M; Bozorgmehr, B; Giunta, C; Häberle, J; Hausser, I; Kariminejad, A; Kariminejad, MH; Kretz, R; Rohrbach, M | 1 |
| Baten, E; Debeer, P; Devriendt, K; Fryns, JP; Huysmans, C; Van de Ven, WJ | 1 |
| Arlt, W; Draper, N; Hartmann, MF; Stewart, PM; Wudy, SA | 1 |
| Camacho, J; Heymann, WR; Honig, PJ; Ilyas, E; Imaizumi, S; Li, W; Pawel, BR; Payne, AS; Schnur, RE; Seykora, JT; Yan, AC; Young, TL | 1 |
| Fuse, N; Nishida, K; Takahashi, K; Yokokura, S | 1 |
| de Zegher, F; François, I; Fryns, JP; Goemans, N; Jaeken, J | 1 |
| Chitayat, D; Fransen, E; Holden, JJ; Van Camp, G; Vits, L; Willems, PJ | 1 |
| Braddock, SR; Graham, JM; Jabs, EW; Lachman, R; Mortier, GR; Van Dop, C | 1 |
1 review(s) available for proline and Abnormalities, Multiple
| Article | Year |
|---|---|
Amino acid synthesis deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine | 2017 |
9 other study(ies) available for proline and Abnormalities, Multiple
| Article | Year |
|---|---|
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy.
Topics: Abnormalities, Multiple; Arginine; Cephalometry; Craniosynostoses; Endoscopy; Female; Forehead; Frontal Bone; Humans; Infant; Male; Orbit; Proline; Receptor, Fibroblast Growth Factor, Type 3; Reoperation; Retrospective Studies | 2011 |
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Collagen; delta-1-Pyrroline-5-Carboxylate Reductase; DNA Mutational Analysis; Elastin; Family; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Middle Aged; Models, Biological; Mutation, Missense; Phenotype; Proline; Pyrroles; Pyrroline Carboxylate Reductases; Young Adult | 2011 |
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.
Topics: Abnormalities, Multiple; Arginine; Base Sequence; Bone Morphogenetic Proteins; Carpal Bones; Carrier Proteins; Mutation; Proline; Radiography; Synostosis; Tarsal Bones | 2004 |
A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency.
Topics: 17-alpha-Hydroxyprogesterone; Abnormalities, Multiple; Alanine; Amino Acid Substitution; Cytosine; Diagnosis, Differential; Diseases in Twins; Ear; Female; Guanine; Humans; Infant, Newborn; Male; Marfan Syndrome; NADPH-Ferrihemoprotein Reductase; Proline; Skull; Steroid Metabolism, Inborn Errors; Steroids | 2004 |
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
Topics: Abnormalities, Multiple; Arginine; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Genotype; Humans; Immunohistochemistry; Infant, Newborn; Male; Mutation, Missense; Phenotype; Phosphoproteins; Proline; Skin; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins | 2005 |
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Alanine; Anterior Eye Segment; Asian People; Base Sequence; Child, Preschool; Eye Abnormalities; Female; Forkhead Transcription Factors; Frameshift Mutation; Gene Deletion; Genes, Dominant; Humans; Mutation, Missense; Pedigree; Phenotype; Proline; Protein Structure, Tertiary; Syndrome | 2007 |
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.
Topics: Abnormalities, Multiple; Adolescent; Chromosomes, Human, Pair 22; Female; Gene Deletion; Heparin Cofactor II; Humans; Proline; Proline Oxidase; Syndrome | 1996 |
Evidence for somatic and germline mosaicism in CRASH syndrome.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Substitution; Arginine; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Germ-Line Mutation; Humans; Hydrocephalus; Intellectual Disability; Leukocyte L1 Antigen Complex; Male; Membrane Glycoproteins; Mosaicism; Mutation; Neural Cell Adhesion Molecules; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Spastic Paraplegia, Hereditary; Thumb; X Chromosome | 1998 |
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
Topics: Abnormalities, Multiple; Adolescent; Arginine; Craniosynostoses; DNA Mutational Analysis; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome | 1998 |